A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6878579



Internal ID9927518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31026265..31027313hg38UCSC Ensembl
Outerchr6:30994042..30995090hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731801, esv2731791
Supporting Variants
SamplesSSM093
Known GenesMUC22
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6878579
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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